Ocular coloboma.
Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.
D002648:Child; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics*; D005123:Eye / Q000196:embryology; D005124:Eye Abnormalities; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D012160:Retina / Q000002:abnormalities